Linked Data
gnomAD v4:
4-186194544-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194545del , CM000666.2:g.186194545del | GRCh38 |
| NC_000004.11:g.187115699del , CM000666.1:g.187115699del | GRCh37 |
| NC_000004.10:g.187352693del | NCBI36 |
| NG_007965.1:g.8026del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.260del MANE Select | ENSP00000368079.4:p.Met87SerfsTer4 | |
| ENST00000378802.4:c.260del | ENSP00000368079.4:p.Met87SerfsTer4 | |
| NM_207352.3:c.260del | NP_997235.3:p.Met87SerfsTer4 | |
| XM_005262935.2:c.260del | XP_005262992.1:p.Met87SerfsTer4 | |
| XM_006714184.2:c.-51del | XP_006714247.1:n.-51del | |
| XM_005262935.4:c.260del | XP_005262992.1:p.Met87SerfsTer4 | |
| XM_017008037.1:c.-51del | XP_016863526.1:n.-51del | |
| NM_207352.4:c.260del MANE Select | NP_997235.3:p.Met87SerfsTer4 |